Allele Registry

Canonical Allele Identifier: PA2827011423

Gene: TSC2 HGNC NCBI

ClinVar Allele:

235111

ClinVar RCV:

RCV000215219

RCV000458155

RCV001119143

RCV003153501

ClinVar Variation:

230946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val740Ile	CA038777 NM_001318829.2:c.2218G>A